×
SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500 New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks. This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.72225146G>A , CM000673.2:g.72225146G>A
GRCh38
NC_000011.9:g.71936190G>A , CM000673.1:g.71936190G>A
GRCh37
NC_000011.8:g.71613838G>A
NCBI36
NG_023253.1:g.5309G>A
NG_023253.2:g.5309G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000298229.7:c.162G>A
MANE Select
ENSP00000298229.2:p.Gly54=
ENST00000298229.6:c.162G>A
ENSP00000298229.2:p.Gly54=
ENST00000541544.1:n.78G>A
NM_001567.3:c.162G>A
NP_001558.3:p.Gly54=
XM_005273978.3:c.162G>A
XP_005274035.1:p.Gly54=
XM_005273979.3:c.162G>A
XP_005274036.1:p.Gly54=
XM_011544999.1:c.162G>A
XP_011543301.1:p.Gly54=
XM_011545000.1:c.162G>A
XP_011543302.1:p.Gly54=
XM_005273979.4:c.162G>A
XP_005274036.1:p.Gly54=
XM_011544999.2:c.162G>A
XP_011543301.1:p.Gly54=
XM_024448501.1:c.162G>A
XP_024304269.1:p.Gly54=
XM_024448502.1:c.162G>A
XP_024304270.1:p.Gly54=
XM_024448503.1:c.41G>A
XP_024304271.1:p.Gly14Glu
XM_024448504.1:c.162G>A
XP_024304272.1:p.Gly54=
XM_024448505.1:c.162G>A
XP_024304273.1:p.Gly54=
NM_001567.4:c.162G>A
MANE Select
NP_001558.3:p.Gly54=